DLG5 Chromosome 10
Discs large MAGUK scaffold protein 5
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What This Gene Does
This gene encodes a member of the family of discs large (DLG) homologs, a subset of the membrane-associated guanylate kinase (MAGUK) superfamily. The MAGUK proteins are composed of a catalytically inactive guanylate kinase domain, in addition to PDZ and SH3 domains, and are thought to function as scaffolding molecules at sites of cell-cell contact. The protein encoded by this gene localizes to the plasma membrane and cytoplasm, and interacts with components of adherens junctions and the cytoskeleton. It is proposed to function in the transmission of extracellular signals to the cytoskeleton and in the maintenance of epithelial cell structure. Alternative splice variants have been described but their biological nature has not been determined. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"Membrane associated guanylate kinases|PDZ domain containing"
Locus Type
gene with protein product
Location
10q22.3
Ensembl
ENSG00000151208
Associated Conditions (1)
Yuksel-Vogel-Bauer syndrome
Key Variants
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201354863 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1846693029 | Health Risk | Pathogenic | — |
| RS2492090314 | Health Risk | Pathogenic | Yuksel-Vogel-Bauer syndrome, Yuksel-Vogel-Bauer syndrome |
| RS764575492 | Health Risk | Pathogenic | Yuksel-Vogel-Bauer syndrome, Yuksel-Vogel-Bauer syndrome |